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  3. Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
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Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis


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Other Names:
NISCH syndrome; Neonatal ichthyosis-sclerosing cholangitis syndrome; ILVASC; NISCH syndrome; Neonatal ichthyosis-sclerosing cholangitis syndrome; ILVASC; Ichthyosis-sclerosing cholangitis syndrome See More
Categories:
Congenital and Genetic Diseases; Digestive Diseases; Skin Diseases

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 59303

Definition
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.

Epidemiology
Less than ten patients (from unrelated consanguineous Moroccan families and from Sweden) have been reported so far.

Clinical description
The ichthyosis presents with diffuse white scales sparing the skin folds, and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly, and biochemical cholestasis. Overall, the clinical picture mimics biliary atresia (see this term). Portal hypertension, patent extrahepatic bile duct obstruction and splenomegaly may also be present. Histology shows extensive fibrosis and bile duct proliferation. Leukocyte vacuolization is a common finding. The hepatic disease may have variable expressivity, ranging from a progressive disease resulting in liver failure to regression of cholestasis.

Etiology
NISCH syndrome is caused by a mutation in the CLDN1 gene coding for the tight junction protein claudin-1.

Diagnostic methods
Diagnosis is based on clinical, biochemical and histological features.

Differential diagnosis
The differential diagnosis should include Dorfman-Chanarin syndrome and other syndromic forms of ichthyosis (see these terms).

Genetic counseling
NISCH syndrome shows an autosomal recessive pattern of inheritance.

Management and treatment
Treatments aim at improving symptoms and survival. Liver transplant remains the only effective treatment in case of liver failure. Ichthyosis is managed by hydration of the skin (topical application of creams and emollient oils), retinoids and sunlight exposure.

Visit the Orphanet disease page for more resources.
Last updated: 4/1/2008

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 24 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Hepatomegaly
Enlarged liver
0002240
Ichthyosis 0008064
Jaundice
Yellow skin
Yellowing of the skin
[ more ]
0000952
Scarring alopecia of scalp 0004552
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse body hair 0002231
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
0000653
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
0002209
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
0000682
Acanthosis nigricans
Darkened and thickened skin
0000956
Hypodontia
Failure of development of between one and six teeth
0000668
Oligodontia
Failure of development of more than six teeth
0000677
Portal hypertension 0001409
Percent of people who have these symptoms is not available through HPO
Abnormality of blood and blood-forming tissues 0001871
Alopecia
Hair loss
0001596
Autosomal recessive inheritance 0000007
Cholangitis
Bile duct inflammation
0030151
Dry skin 0000958
Epidermal acanthosis
Thickening of upper layer of skin
0025092
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Orthokeratosis 0040162
Parakeratosis 0001036
Thick hair
Increased hair density
0100874
Showing of 24 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis:
    The National Registry for Ichthyosis & Related Skin Disorders
     

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Foundation for Ichthyosis and Related Skin Types (FIRST)
    2616 North Broad Street
    Colmar, PA 18915
    Toll-free: 1-800-545-3286
    Telephone: +1-215-997-9400
    E-mail: info@firstskinfoundation.org
    Website: http://www.firstskinfoundation.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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You can help advance rare disease research!
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